An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets

Abstract Although rare diseases (RDs) affect over 260 million individuals worldwide, low data quality and scarcity challenge effective care and research. This work aims to harmonise the Common Data Set by European Rare Disease Registry Infrastructure, Health Level 7 Fast Healthcare Interoperability...

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Principais autores:	Adam S. L. Graefe, Miriam R. Hübner, Filip Rehburg, Steffen Sander, Sophie A. I. Klopfenstein, Samer Alkarkoukly, Ana Grönke, Annic Weyersberg, Daniel Danis, Jana Zschüntzsch, Elisabeth F. Nyoungui, Susanna Wiegand, Peter Kühnen, Peter N. Robinson, Oya Beyan, Sylvia Thun
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Nature Portfolio 2025-02-01
coleção:	Scientific Data
Acesso em linha:	https://doi.org/10.1038/s41597-025-04558-z
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